Tags

Type your tag names separated by a space and hit enter

Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat.
Prenat Diagn. 1999 Dec; 19(12):1150-6.PD

Abstract

We report prenatal and early postnatal findings in a newborn with a partial trisomy of chromosome 7 (7q31.3-qter), arising from meiotic recombination of a paternal pericentric inversion, inv(7)(p22q31.3). The inversion breakpoints were localized and the regions of duplication and deletion were defined by fluorescence in situ hybridization (FISH) analysis using a series of locus-specific and subtelomeric probes. To our knowledge, only three cases involving a recombinant 7 with duplication of 7q have been reported, two of these being first cousins. The clinical findings in our patient included skeletal abnormalities, facial dysmorphism, dilated cerebral ventricles, microretrognathia and short neck. These findings and some aspects of the neonatal course were consistent with the phenotype previously reported for duplication of distal 7q, without associated monosomy for sequences from another chromosome.

Authors+Show Affiliations

Department of Gynecology and Obstetrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287-2501, USA. goodman@welchlink.welch.jhu.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, U.S. Gov't, P.H.S.
Review

Language

eng

PubMed ID

10590434

Citation

Goodman, B K., et al. "Molecular Cytogenetic Analysis and Clinical Findings in a Newborn With Prenatally Diagnosed Rec(7)dup(7q)inv(7)(p22q31.3)pat." Prenatal Diagnosis, vol. 19, no. 12, 1999, pp. 1150-6.
Goodman BK, Stone K, Coddett JM, et al. Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat. Prenat Diagn. 1999;19(12):1150-6.
Goodman, B. K., Stone, K., Coddett, J. M., Cargile, C. B., Gurewitsch, E. D., Blakemore, K. J., & Stetten, G. (1999). Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat. Prenatal Diagnosis, 19(12), 1150-6.
Goodman BK, et al. Molecular Cytogenetic Analysis and Clinical Findings in a Newborn With Prenatally Diagnosed Rec(7)dup(7q)inv(7)(p22q31.3)pat. Prenat Diagn. 1999;19(12):1150-6. PubMed PMID: 10590434.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular cytogenetic analysis and clinical findings in a newborn with prenatally diagnosed rec(7)dup(7q)inv(7)(p22q31.3)pat. AU - Goodman,B K, AU - Stone,K, AU - Coddett,J M, AU - Cargile,C B, AU - Gurewitsch,E D, AU - Blakemore,K J, AU - Stetten,G, PY - 1999/12/11/pubmed PY - 2000/4/1/medline PY - 1999/12/11/entrez SP - 1150 EP - 6 JF - Prenatal diagnosis JO - Prenat Diagn VL - 19 IS - 12 N2 - We report prenatal and early postnatal findings in a newborn with a partial trisomy of chromosome 7 (7q31.3-qter), arising from meiotic recombination of a paternal pericentric inversion, inv(7)(p22q31.3). The inversion breakpoints were localized and the regions of duplication and deletion were defined by fluorescence in situ hybridization (FISH) analysis using a series of locus-specific and subtelomeric probes. To our knowledge, only three cases involving a recombinant 7 with duplication of 7q have been reported, two of these being first cousins. The clinical findings in our patient included skeletal abnormalities, facial dysmorphism, dilated cerebral ventricles, microretrognathia and short neck. These findings and some aspects of the neonatal course were consistent with the phenotype previously reported for duplication of distal 7q, without associated monosomy for sequences from another chromosome. SN - 0197-3851 UR - https://www.unboundmedicine.com/medline/citation/10590434/Molecular_cytogenetic_analysis_and_clinical_findings_in_a_newborn_with_prenatally_diagnosed_rec_7_dup_7q_inv_7__p22q31_3_pat_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0197-3851&date=1999&volume=19&issue=12&spage=1150 DB - PRIME DP - Unbound Medicine ER -